Newborn screening for Krabbe disease in New York State: the first eight years’ experience von Orsini, Joseph J., Kay, Denise M., Saavedra-Matiz, Carlos A., Wenger, David A., Duffner, Patricia K., Erbe, Richard W., Biski, Chad, Martin, Monica, Krein, Lea M., Nichols, Matthew, Kurtzberg, Joanne, Escolar, Maria L., Adams, Darius J., Arnold, Georgianne L., Iglesias, Alejandro, Galvin-Parton, Patricia, Kronn, David F., Kwon, Jennifer M., Levy, Paul A., Pellegrino, Joan E., Shur, Natasha, Wasserstein, Melissa P., Caggana, Michele

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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State von Wasserstein, Melissa P., Andriola, Mary, Arnold, Georgianne, Aron, Alan, Duffner, Patricia, Erbe, Richard W., Escolar, Maria L., Estrella, Lissette, Galvin-Parton, Patricia, Iglesias, Alejandro, Kay, Denise M., Kronn, David F., Kurtzberg, Joanne, Kwon, Jennifer M., Langan, Thomas J., Levy, Paul A., Naidich, Thomas P., Orsini, Joseph J., Pellegrino, Joan E., Provenzale, James M., Wenger, David A., Caggana, Michele

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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease von Guenzel, Adam J., Turgeon, Coleman T., Nickander, Kim K., White, Amy L., Peck, Dawn S., Pino, Gisele B., Studinski, April L., Prasad, Vinod K., Kurtzberg, Joanne, Escolar, Maria L., Lasio, Maria Laura Duque, Pellegrino, Joan E., Sakonju, Ai, Hickey, Rachel E., Shallow, Natalie M., Ream, Margie A., Orsini, Joseph J., Gelb, Michael H., Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich

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Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report von Corre, Camille S., Matern, Dietrich, Pellegrino, Joan E., Saavedra-Matiz, Carlos A., Orsini, Joseph J., Thompson-Stone, Robert

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Myoclonus-dystonia syndrome associated with Russell Silver syndrome von Augustine, Erika F., Blackburn, Joanna, Pellegrino, Joan E., Miller, Ryan, Mink, Jonathan W.

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Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State von Arnold, Georgianne L., Saavedra-Matiz, Carlos A., Galvin-Parton, Patricia A., Erbe, Richard, DeVincentis, Ellen, Kronn, David, Mofidi, Shideh, Wasserstein, Melissa, Pellegrino, Joan E., Levy, Paul A., Adams, Darius J., Nichols, Matthew, Caggana, Michele

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Newborn Screening for Krabbe Disease: the New York State Model von Duffner, Patricia K., MD, Caggana, Michele, ScD, Orsini, Joseph J., PhD, Wenger, David A., PhD, Patterson, Marc C., MD, Crosley, Carl J., MD, Kurtzberg, Joanne, MD, Arnold, Georgianne L., MD, Escolar, Maria L., MD, Adams, Darius J., MD, Andriola, Mary R., MD, Aron, Alan M., MD, Ciafaloni, Emma, MD, Djukic, Alexandra, MD, Erbe, Richard W., MD, Galvin-Parton, Patricia, MD, Helton, Laura E., MD, MPH, Kolodny, Edwin H., MD, Kosofsky, Barry E., MD, Kronn, David F., MD, Kwon, Jennifer M., MD, Levy, Paul A., MD, Miller-Horn, Jill, MD, Naidich, Thomas P., MD, Pellegrino, Joan E., MD, Provenzale, James M., MD, Rothman, Stanley J., MD, Wasserstein, Melissa P., MD

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Postpartum “Psychosis” in Mild Argininosuccinate Synthetase Deficiency von Enns, Gregory M., O'Brien, William E., Kobayashi, Keiko, Shinzawa, Haruhide, Pellegrino, Joan E.

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Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes von Farwell Gonzalez, Kelly D., Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Pellegrino, Joan E., Miller, Ryan T., Zeng, Wenqi, Chao, Elizabeth C.

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Clinical Nosologic and Genetic Aspects of Joubert and Related Syndromes von Chance, Phillip F., Cavalier, Laurent, Satran, Daniel, Pellegrino, Joan E., Koenig, Michel, Dobyns, William B.

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Expanding the myopathic spectrum of dominant RYR1 mutations: two case reports von Coyne, Liam, El-Dokla, Ahmed, Pellegrino, Joan, Fuller, Christine, Sakonju, Ai

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eP257 - Expanding the myopathic spectrum of dominant RYR1 mutations: two case reports von Coyne, Liam, El-Dokla, Ahmed, Pellegrino, Joan, Fuller, Christine, Sakonju, Ai

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A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening von Vocke, Cathy D., Fleming, Leah R., Piskorski, Anna M., Amin, Ali, Phornphutkul, Chanika, Monte, Suzanne, Vilboux, Thierry, Duncan, Folami, Pellegrino, Joan, Braddock, Bonnie, Middelton, Lindsay A., Schmidt, Laura S., Merino, Maria J., Cowen, Edward W., Introne, Wendy J., Linehan, W. Marston, Smith, Ann C. M.

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Psychosine: A useful biomarker for newborn screening, follow up and monitoring of Krabbe disease von Turgeon, Coleman, White, Amy, Peck, Dawn, Pino, Gessi Bentz, Studinksi, April, Orsini, Joseph J., Gelb, Michael, Christine Dorley, M., Pellegrino, Joan, Sakonju, Ai, Prasad, Vinod, Kurtzberg, Joanne, Oglesbee, Devin, Gavrilov, Dimitar, Tortorelli, Silvia, Rinaldo, Piero, Raymond, Kimiyo, Matern, Dietrich

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Opportunities in the industrial biobased products industry von Carole, T.M, Pellegrino, J, Paster, M.D

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Activity and selectivity of three molybdenum catalysts for coal liquefaction reactions von Curtis, Christine W, Pellegrino, Joan L

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A Method for Assigning Priorities to United States Measurement System (USMS) Needs: Nano-Electrotechnologies von Bennett, Herbert S, Andres, Howard, Pellegrino, Joan

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Genetics Casebook von Day-Salvatore, Debra, Pellegrino, Joan E, White, Mary, Fisher, Allan J, Anwar, Mujahid, Krasna, Irwin H

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Priorities for Standards and Measurements to Accelerate Innovations in Nano-Electrotechnologies: Analysis of the NIST-Energetics-IEC TC 113 Survey von Bennett, Herbert S, Andres, Howard, Pellegrino, Joan, Kwok, Winnie, Fabricius, Norbert, Chapin, J Thomas

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Hereditary neuralgic amyotrophy : evidence for genetic homogeneity and mapping to chromosome 17q25 von PELLEGRINO, J. E, GEORGE, R. A. V, BIEGEL, J, FARLOW, M. R, GARDNER, K, CARESS, J, BROWN, M. J, REBBECK, T. R, BIRD, T. D, CHANCE, P. F

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